Senior-Boichis syndrome
Definicija
Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
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Pun naziv
Senior-Boichis syndrome
Kratki naziv
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Sinonimi
Nephronophthisis-hepatic fibrosis syndromeBoichis disease
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
Unknown
Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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